I kēia lā, e kamaʻilio ana mākou e pili ana i kahi maʻi laha ʻole akā koʻikoʻi loa. Ua kapa ʻia ʻo Banyan-Riley-Ruvalcaba Syndrome, a i ʻole "BRRS" no ka pōkole. He maʻi hoʻoilina ia. ʻO ia hoʻi, ua hana ʻia e kahi loli liʻiliʻi o nā genes i loko o ko mākou kino. Hoʻonui kēia maʻi i ka pilikia o ka ulu ʻana o nā puʻupuʻu ʻano ʻē ("tumors") ma nā ʻāpana like ʻole o ke kino. Mai hopohopo, e hoʻomaopopo maʻalahi kākou i kēia.
He aha ka Banyan-Riley-Ruvalcaba Syndrome (BRRS)?
I ka ʻōlelo maʻalahi, ʻo `(BRRS)` he maʻi hoʻoilina . No loko ia o kahi hui o nā maʻi i kapa ʻia ʻo `(PTEN hamartoma tumor syndrome (PHTS))`. Ua lohe paha ʻoe i ka `(Cowden syndrome)`, kahi e hāʻule pū ana i loko o kēia māhele `(PHTS)`.
ʻO kēia kūlana `(BRRS)` ka mea maʻamau i hoʻokumu ʻia e kahi loli, a i ʻole mutation , i loko o kahi gene i kapa ʻia ʻo `(PTEN)` i loko o ko mākou kino. ʻO kēia gene `(PTEN)` ke kāohi nei i ka ulu ʻana o kā mākou mau cell, ʻoiai ka hana ʻana o nā protein e kāohi ana i ka ulu ʻana o nā tumors. No laila, no ka mea ʻaʻole hana pono kēia gene `(PTEN)` i loko o ke kanaka me `(BRRS)`, hiki i kā lākou mau cell ke ulu me ka hiki ʻole ke kāohi. Hoʻonui kēia i ka pilikia o ka ulu ʻana o nā hamartomas , a me nā tumors ʻē aʻe e loaʻa ai ka maʻi kanesa a me nā ʻano ʻē aʻe ʻaʻole loaʻa ka maʻi kanesa. Eia kekahi, ua hoʻonui ʻia ka pilikia o ka ulu ʻana o kekahi mau ʻano maʻi kanesa .
Eia kekahi, hiki ke hoʻonui ʻia ke kaumaha o ka hānau ʻana, ʻoi aku ka nui o ke poʻo ma mua o ka awelika (macrocephaly), nā ʻāpana kāne, a me nā lohi like ʻole o ka ulu ʻana a me ka noʻonoʻo.
He aha nā inoa ʻē aʻe i hoʻohana ʻia no `(BRRS)`?
Ua kapa ʻia kēia kūlana e kekahi mau inoa ʻē aʻe. Ua lohe paha ʻoe i kekahi o kēia mau inoa:
- ʻO ka maʻi Riley-Smith
- ʻO ka maʻi Ruvalcaba-Myhre
- ʻO ka maʻi Ruvalcaba-Myhre-Smith
- ʻO ka maʻi Bannayan-Zonana
Pehea ka maʻamau o kēia kūlana `(BRRS)`?
He mea paʻakikī ke ʻōlelo pololei i ke ʻano maʻamau o kēia maʻi, no ka mea, ʻokoʻa loa nā hōʻailona mai kēlā kanaka a kēia kanaka. He ʻike iki ʻia kekahi o nā hōʻailona. Eia nō naʻe, manaʻo ka hapa nui o nā kānaka noiʻi he maʻi laha ʻole kēia.
He aha nā hōʻailona o ka `(BRRS)`?
He ʻokoʻa loa nā hōʻailona o ka maʻi Bannayan-Riley-Ruvalcaba. Loaʻa paha i kekahi poʻe he nui o kēia mau hōʻailona, aʻo kekahi poʻe he kakaikahi wale nō. E nānā kākou i nā hōʻailona nui e ʻike ʻia:
- Loaʻa ke kaumaha a me ka lōʻihi i ka wā hānau .
- ʻO ke poʻo i ʻoi aku ka nui ma mua o ka maʻamau (macrocephaly).
- ʻIke ʻana i nā kiko (pigmented macules) ma ka ʻāpana genital o nā keikikāne.
- ʻAʻohe leo o nā ʻiʻo (hypotonia). E noʻonoʻo, ke hāpai ʻoe i kahi pēpē, ua palupalu iki nā lālā.
- Ka hoʻomohala ʻana i ka ʻōlelo a me/a i ʻole nā mākau neʻeNā lohi o ka hoʻomohala ʻana.
- Hiki i kēia ke hoʻopilikia i kahi 50% o ka poʻe me ke kino kīnā (BRRS).
- ʻO ka maʻi autism spectrum (`(Autism spectrum disorder)`) - Ua ʻike ʻia aia ma kahi o 20% o nā keiki me ka autism he mutation i loko o ka gene `(PTEN)`.
- Ka nāwaliwali o nā ʻiʻo .
- ʻO Hamartomas nā ulu ʻano ʻē ʻole o nā pūnaewele a me nā ʻiʻo i loko o nā ʻōpū, ʻaʻole ia he maʻi kanesa.
- Nā hono palupalu loa .
- Nā hopu ʻana e like me ka maʻi ʻepilepsy (`(nā hopu ʻana)`).
- ʻO ka Pectus excavatum - He kūlana kēia kahi e piholo ai ka waena o ka iwi umauma i loko.
- ʻO ke skoliosis .
- ʻAcanthosis nigricans (`(Acanthosis nigricans)`) - Ka ʻeleʻele ʻana o ka ʻili ma nā pelu o ke kino a me nā wahi e like me nā kuʻekuʻe lima, ka ʻāʻī, a pēlā aku.
- Nā ʻōpū momona (lipomas) e ulu ana ma lalo o ka ʻili.
- Nā puʻupuʻu ʻaʻole maʻi ʻaʻai i hana ʻia me ka momona a me nā kīʻaha koko (angiolipomas).
- Nā kiko e like me ka hōʻailona hānau (hemangiomas) i hana ʻia mai ka hōʻiliʻili ʻana o nā kīʻaha koko keu ma lalo o ka ʻili.
E hoʻomanaʻo, ʻaʻole i loaʻa i nā kānaka a pau kēia mau ʻano a pau. Loaʻa paha i kekahi poʻe kekahi mau ʻano liʻiliʻi wale nō.
He aha nā kumu o ka `(BRRS)`?
ʻElua kumu nui e kū mai ai kēia kūlana ``(BRRS)``:
1. He hoʻololi ʻana i loko o kāu gene `(PTEN)`. (ʻO kēia ke kumu maʻamau.)
2. Ka holoi nui ʻana o nā mea hoʻoilina e komo pū ana me kāu gene `(PTEN)` āpau a i ʻole kekahi hapa. (Hana ʻia kēia ma kahi o 10% o nā hihia.)
E like me kā mākou i kūkākūkā ai ma mua, hana kāu gene PTEN i kahi protein e kāohi ana i ka ulu ʻana o nā tumors. Inā nalowale kēia gene a hana pono ʻole paha, hoʻomaka kāu mau cell e māhele me ke kāohi ʻole ʻia. ʻO ka hopena kēia i nā hamartomas a me nā tumors ʻē aʻe e loaʻa ai ka maʻi kanesa a me nā ʻano ʻē aʻe ʻaʻole loaʻa ka maʻi kanesa.
Eia nō naʻe, ʻaʻole maopopo loa i ka poʻe loea pehea e hoʻoulu ai nā hoʻololi ʻana i ka gene PTEN i nā hōʻailona ʻē aʻe o BRRS, e like me ka macrocephaly (poʻo nui), nā ʻano ʻē o nā ʻiʻo a me ka iwi, a me nā lohi o ka ulu ʻana a me ka noʻonoʻo.
Ke hele nei ʻo `(BRRS)` mai kēlā hanauna a i kēia hanauna?
ʻAe, hiki i nā mākua ke hoʻoili i ke kūlana `(BRRS)` i kā lākou mau keiki. Ua kapa ʻia kēia ʻo `(autosomal dominant inheritance )`. I ka ʻōlelo maʻalahi, inā loaʻa i kekahi o nā mākua hoʻokahi kope o ka mutated `(PTEN)` gene, loaʻa i kā lākou keiki he 50% ka manawa e hoʻoilina ai i ke kūlana.
Pehea e ʻike ai i ka `(BRRS)`?
Inā kānalua kekahi kauka he BRRS paha kou, e kauoha paha lākou i kahi hoʻāʻo genetic no ka gene PTEN.Paipai ʻia ka hoʻāʻo ʻana i ka genetics. Pili kēia i kahi kaʻina hana i kapa ʻia ʻo gene sequencing. ʻO ke ʻano kēia, ua nānā ʻia kēlā me kēia ʻāpana o ka gene e ʻike inā he mau loli a i ʻole nā mutations.
He pololei loa kēia hoʻāʻo `(PTEN)`. Inā loaʻa i kāu kauka kahi hoʻololi ʻana o ka gene `(PTEN)`, hiki iā lākou ke hōʻoia me ka maopopo 100% ua loaʻa iā ʻoe ʻo `(BRRS)`. Eia naʻe, he 60% wale nō o ka poʻe me nā hōʻailona `(BRRS)` i loaʻa kahi hoʻololi ʻana o ka gene hiki ke ʻike ʻia. ʻO ke ʻano kēia, ma kahi o 40% o ka poʻe me nā hōʻailona `(BRRS)` e loaʻa paha nā hopena hoʻāʻo maʻamau. Inā makemake ʻoe e hoʻāʻo ʻia no `(PTEN)`, e kamaʻilio me kāu kauka.
Pehea e mālama ʻia ai ka `(BRRS)`?
ʻAʻohe lāʻau lapaʻau kūikawā no ka ``(BRRS)''. Akā, ʻo ka lāʻau lapaʻau no ka maʻi Bannayan-Riley-Ruvalcaba e pili ana i ka mālama ʻana i kāu mau hōʻailona a me nā hōʻailona kūikawā .
Pono nā kānaka me BRRS e hana i nā hoʻokolohua maʻamau no nā ʻano maʻi kanesa like ʻole, inā he mau hōʻailona ko lākou a ʻaʻole paha. Manaʻo nā kauka i nā kānaka i ʻike ʻia me ka hoʻololi ʻana o ka gene PTEN e hahai i nā alakaʻi hoʻokolohua no ka maʻi Cowden. Hoʻokomo pū kēia i ka hoʻokolohua no kēia mau maʻi kanesa:
- Ka maʻi ʻaʻai umauma
- Ka maʻi ʻōpū
- Ka maʻi ʻaʻai thyroid
- Ka maʻi ʻaʻai puʻupaʻa
He kōkua nui ke aʻoaʻo ʻana i nā ʻano hoʻoilina no ka poʻe me BRRS. Pono e hoʻāʻo ʻia nā ʻohana i hōʻike ʻole i nā hōʻailona o BRRS no ka gene PTEN e hoʻoholo ai inā pono lākou e hahai i nā alakaʻi nānā ʻana i ka maʻi kanesa .
Nā Alakaʻi Nānā no `(BRRS)`
Aia nā alakaʻi nānā kūikawā no kēlā me kēia ʻano maʻi kanesa, me ka wā e hoʻomaka ai ka hoʻāʻo ʻana. ʻAʻole hoʻomaka nā maʻi kanesa āpau i ka hoʻāʻo ʻana i ka manawa like me ka hōʻoia ʻana - pili ia i ka makahiki o ke kanaka i ka wā i hōʻoia ʻia ai.
No nā poʻe ma lalo o 18 mau makahiki , hiki i nā kauka ke ʻōlelo i kēia mau mea:
- ʻO ka ultrasound thyroid makahiki mai ka makahiki 7.
- He hoʻokolokolo kino makahiki me ka hoʻokolokolo ʻili .
- He loiloi neurodevelopmental .
- Pono ka hoʻāʻo hemoglobin makahiki e ʻike mua i nā hamartomas ʻōpū.
Hiki ke pale ʻia ka BRRS?
ʻAʻole, ʻaʻole hiki ke pale ʻia ka BRRS. He ʻano maʻi ia i hoʻokumu ʻia e kahi hoʻololi ʻana o ka gene. Hiki i ka poʻe me BRRS ke loaʻa i ka ʻōlelo aʻoaʻo genetic. Hiki i kēia ke kōkua iā lākou e hoʻoholo i nā hoʻoholo e pili ana i ka mālama ola kino a me ka loaʻa ʻana o nā keiki.
He aha kaʻu e manaʻo ai inā loaʻa iaʻu ka `(BRRS)`?
ʻOkoʻa loa ka wānana no kekahi me BRRS mai kēlā kanaka a kēia kanaka. Loaʻa paha i kekahi poʻe nā hōʻailona liʻiliʻi a me nā hōʻailona - ʻo kekahi poʻe he kakaikahi a ʻaʻohe hōʻailona paha. Nui nā koho hoʻokele i loaʻa i ka poʻe me BRRS e hiki ke kōkua i ka hoʻomaikaʻi ʻana i ko lākou ʻano ola holoʻokoʻa. ʻO nā laʻana e komo pū me ka hoʻōla kino a me ka hoʻōla ʻōlelo .
E like me ka mea i ʻōlelo ʻia ma mua, pono e nānā mau ʻia ka poʻe me ka ``(BRRS)`` no nā ʻano maʻi kanesa like ʻole. E nīnau i kāu kauka i ka manawa hea e hoʻomaka ai ʻoe i ka nānā ʻana a me ka pinepine o kou loaʻa ʻana iā lākou.
ʻO ka Bannayan-Riley-Ruvalcaba Syndrome a me ka Manaʻolana Ola
ʻAʻole i hoʻoholo nā kānaka noiʻi i ka awelika o ke ola o ka poʻe me BRRS. ʻO ka ʻoiaʻiʻo, ʻaʻohe hōʻike e hōʻike ana he pōkole ke ola o ka poʻe me BRRS. Eia nō naʻe, ʻoi aku ka nui o ka pilikia o ka poʻe me BRRS i ka loaʻa ʻana o kekahi mau ʻano maʻi kanesa i ka wā ʻōpiopio. No kēia kumu, ʻoi aku ka pōkole o ke ola o kekahi poʻe ma muli o ke kanesa.
Āhea wau e ʻike ai i kaʻu kauka?
Inā loaʻa i kou ʻohana pili (no ka laʻana, nā kaikaina, nā mākua, a i ʻole nā keiki) ka `(BRRS)`, pono ʻoe e nīnau i kāu kauka e pili ana i ka hoʻāʻo ʻana i ka genetic `(PTEN)`. Hiki i ka hoʻāʻo ʻana i ka `(PTEN)` ke ʻike inā loaʻa iā ʻoe kahi mutation gene `(PTEN)` a inā pono ʻoe e nānā mau ʻia no kekahi mau maʻi kanesa.
Inā ʻike ʻia ʻoe a i ʻole kāu keiki me BRRS, e hana pū kāu kauka me ʻoe e hoʻokele i kāu mau hōʻailona a hoʻomaikaʻi i kou ʻano ola. E haʻi pū lākou iā ʻoe i ka pinepine o kāu hana ʻana i nā hoʻokolohua maʻi kanesa.
He aha nā nīnau e pono iaʻu e nīnau aku i kaʻu kauka?
Inā ua ʻike ʻia ʻoe a i ʻole kahi mea aloha me BRRS, eia kekahi mau nīnau hiki iā ʻoe ke nīnau i kāu kauka:
- Aia kekahi loli ʻana o ka gene `(PTEN)` i loko oʻu a i ʻole kaʻu keiki?
- Aia kekahi mau hōʻailona a me nā hōʻailona maopopo?
- Pono anei au e hana i kahi hoʻokolohua genetic?
- Pono anei koʻu mau ʻohana pili e hana i nā hoʻāʻo genetic?
- Pehea e pili ai kēia i ka hoʻolālā ʻohana?
- He aha nā koho lapaʻau a hoʻokele paha āu e paipai nei?
- ʻEhia pinepine e pono ai iaʻu e hana i nā hoʻokolohua nānā ʻana i ka maʻi kanesa?
Leka Lawe-Home
ʻO ka maʻi Bannayan-Riley-Ruvalcaba (BRRS) kahi maʻi genetic laha ʻole i hoʻokumu ʻia e kahi mutation i loko o kāu gene PTEN. Hiki ke ʻokoʻa loa nā hōʻailona, a hiki ke ʻano mai ka maʻalahi a i ka koʻikoʻi. ʻAʻohe lāʻau lapaʻau kūikawā no BRRS, akā ʻo ka lāʻau lapaʻau nui ka hoʻokele ʻana i nā hōʻailona. He mea nui i ka poʻe me BRRS ke hana i ka nānā mau ʻana no kekahi mau ʻano maʻi kanesa, me ka umauma, ka uterine, ka thyroid, a me ke kanesa puʻupaʻa.
Hiki i ke kamaʻilio ʻana me kekahi kākāʻōlelo a mea hana kaiaulu paha ke kōkua nui i ka hoʻoponopono ʻana i nā manaʻo e hele mai me ka loaʻa ʻana o kahi hōʻailona e like me kēia. Hiki iā ʻoe ke hui pū me kahi hui kākoʻo kūloko a pūnaewele paha e hālāwai me nā poʻe ʻē aʻe i hele i nā ʻike like. Mai hopohopo, ʻaʻole ʻoe hoʻokahi. Me ke aʻo lapaʻau kūpono a me ke kākoʻo, hiki iā ʻoe ke hoʻokele i kēia kūlana a ola i kahi ola maikaʻi.
👩🏽⚕️ Nā nīnau hou aku (FAQs)
💬 He aha ka Bannayan-Riley-Ruvalcaba Syndrome (BRRS)?
He maʻi hoʻoilina laha ʻole kēia (genetic/PTEN gene mutation). Ma kēia, hoʻomaka nā hui ʻino ʻole o nā puʻupuʻu (hamartomatous polyps) e hana ma kekahi wahi ma hope o kekahi, ʻoi aku hoʻi i loko o nā ʻōpū (ʻōpū) a me nā ʻōpū. ʻAʻole wale kēlā, akā ʻike ʻia nā loli nui he nui i nā lālā o nā keiki me kēia maʻi.
💬 He aha nā hōʻailona kūwaho kikoʻī o kēia maʻi?
Hānau ʻia ke keiki me kēia maʻi me ke poʻo nui ʻē (macrocephaly). ʻOi aku ke kaumaha o ke pēpē. I ke ʻano o ke keikikāne, hiki ke ʻike ʻia nā kiko a me nā kiko (freckles) ma ka penis. Me kēia, ʻike maopopo ʻia ka nāwaliwali o nā ʻiʻo a me nā lohi o ka ulu ʻana.
💬 ʻOi aku ka nui o ka loaʻa ʻana o ka maʻi kanesa i nā keiki me kēia maʻi?
ʻAe! ʻO ka hoʻololi ʻana o ka gene like (PTEN) e hoʻoulu ai i kēia maʻi e hoʻopilikia pū i kahi maʻi kanesa koʻikoʻi ʻē aʻe (Cowden syndrome). No laila, pono e hana kēia mau maʻi i ka nānā ʻana no ka maʻi kanesa o ka umauma, ka maʻi kanesa thyroid, a me ka maʻi kanesa uterine i kēlā me kēia makahiki ke hiki lākou i ka wā makua.
ʻO ka maʻi Bannayan-Riley-Ruvalcaba, BRRS, ka gene PTEN, hamartoma, maʻi hoʻoilina, pilikia maʻi ʻaʻai, macrocephaly, lohi o ka ulu ʻana, maʻi hoʻoilina, pilikia maʻi ʻaʻai, lohi o ka ulu ʻana
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